ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) (rs754279998)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201670 SCV000256447 pathogenic Joubert syndrome 2015-02-23 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414929 SCV000492770 pathogenic Polydactyly; Global developmental delay; Rotary nystagmus; Limb undergrowth; Chronic kidney disease 2015-10-23 criteria provided, single submitter clinical testing
Counsyl RCV000665372 SCV000789485 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV000691391 SCV000819167 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-12-28 criteria provided, single submitter clinical testing This variant, c.1115_1117delCCT, results in the deletion of 1 amino acid(s) of the MKS1 protein (p.Ser372del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs754279998, ExAC 0.009%). This variant has been reported as homozygous and/or in combination with another MKS1 variant in several individuals affected with Joubert syndrome (PMID: 24886560, 26092869, 27570071). The variant is also known as c.1085_1088delCCT (p.S362del) in the literature. ClinVar contains an entry for this variant (Variation ID: 217677). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197092 SCV001367728 pathogenic Bardet-Biedl syndrome 13 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in homozygous state.
OMIM RCV000241545 SCV000301466 pathogenic Joubert syndrome 28 2016-09-23 no assertion criteria provided literature only
Natera, Inc. RCV001272923 SCV001455370 pathogenic Meckel syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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